Human coenzyme Q10 deficiency

被引：122

作者：

Quinzii, Catarina M. ^{[1
]}

DiMauro, Salvatore ^{[1
]}

Hirano, Michio ^{[1
]}

机构：

[1] Columbia Univ, Ctr Med, Dept Neurol, New York, NY 10032 USA

来源：

NEUROCHEMICAL RESEARCH | 2007年 / 32卷 / 4-5期

关键词：

CoQ10; mitochondria; encephalopathy; myopathy; cerebellar ataxia;

D O I：

10.1007/s11064-006-9190-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may be related to the multiple steps in CoQ(10) biosynthesis. Patients with all forms of CoQ(10) deficiency have shown clinical improvements after initiating oral CoQ(10) supplementation. Thus, early diagnosis is of critical importance in the management of these patients. This year, the first molecular defect causing the infantile form of primary human CoQ(10) deficiency has been reported. The availability of genetic testing will allow for a better understanding of the pathogenesis of this disease and early initiation of therapy (even presymptomatically in siblings of patients) in this otherwise life-threatening infantile encephalomyopathy.

引用

页码：723 / 727

页数：5

共 43 条

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